Skip to content

Pathogenic Variant Finder Enhancements#1

Open
trevordcampbell wants to merge 8 commits intoSauersML:mainfrom
trevordcampbell:main
Open

Pathogenic Variant Finder Enhancements#1
trevordcampbell wants to merge 8 commits intoSauersML:mainfrom
trevordcampbell:main

Conversation

@trevordcampbell
Copy link

Pathogenic Variant Finder Enhancements

This PR expands the capabilities of the pathogenic variant finder tool, introducing several new features, improving performance, and enhancing reporting functionality.

New Features

Variant Classification Support

  • Added flags to include Variants of Uncertain Significance (VUS) with --include-vus or -v
  • Added support for benign variants with --include-benign or -n
  • Implemented classification categories for better organization of results

Markdown Report Generation

  • Created comprehensive markdown report generation (enabled by default)
  • Organized findings by clinical significance categories
  • Included variant details with gene-based grouping and proper formatting
  • Added sections for methodology, understanding results, and disclaimers

Enhanced Annotation

  • Added more complete information from ClinVar
  • Improved population frequency data integration from 1000 Genomes
  • Better handling of variant classifications and review statuses

Development Environment

  • Added DevContainer configuration for consistent development experience
  • Improved dependency management
  • Added .gitignore for Rust projects

Technical Improvements

Code Quality and Performance

  • Fixed ordering of findings in generated CSV and Markdown reports
  • Improved error handling throughout the codebase
  • Enhanced parallel processing capabilities
  • Optimized file downloading with better progress reporting

Documentation

  • Added comprehensive technical documentation
  • Improved inline code comments
  • Updated user-facing documentation
  • Added examples and usage instructions

Bug Fixes

  • Fixed chromosome ordering in output
  • Resolved dependency issues that were causing compilation errors
  • Corrected handling of genotype information
  • Improved error handling for missing or corrupt files

Other Changes

  • General code cleanup and refactoring
  • Improved logging throughout the application
  • Better progress reporting during long-running operations
  • Standardized error types and improved error messages

This PR transforms the tool from a basic pathogenic variant finder to a comprehensive variant analysis tool with flexible classification options and professional reporting capabilities, making it more useful for both clinical and research applications.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Labels

None yet

Projects

None yet

Development

Successfully merging this pull request may close these issues.

1 participant